Sex differences in alpha-1-antitrypsin deficiency lung disease-analysis from the German registry

Abstract

Alpha-1-antitrypsin deficiency (AATD) is a rare condition with clinical manifestations of the lung and the liver. There is evidence that the gender affects the clinical presentation of non-AATD chronic obstructive lung disease (COPD). The aim of this study was to analyze gender-dependent disease pattern in AATD-based COPD. Data from 1066 individuals from the German AATD registry were analyzed by descriptive and analytical statistics. The AAT genotypes comprised 820 individuals with PiZZ (male 56%, female 45%), 109 with PI SZ (male 55%; female 45%), and others (n = 137). A subgroup of 422 patients with available post-bronchodilator FEV1% predicted was analyzed in detail after stratification in spirometric GOLD stages I-IV. The age of the registered individuals is 52.2 ± 13.4 years (male: 51.91 ± 13.86 years; female: 52.76 ± 13.39 years). Female patients with GOLD I-IV showed lower numbers of pack-years and lower BMI. The time between the first symptom and the establishment of the correct diagnosis was significantly longer in female (14.47 ± 16.46 years) as compared to male individuals (12.39 ± - 14.38 years, p = 0.04). In conclusion, the data of the registry allow to characterize the natural course of the disease and highlight differences in the clinical presentation of patients with AATD-dependent COPD.

Deterioration of quality of life is associated with the exacerbation frequency in individuals with alpha-1-antitrypsin deficiency – analysis from the German Registry

“…The AATDR was founded in 2003 and comprises a registry for adult patients and for individuals below 18 years of age 5. The children’s registry was excluded from the present analysis.…”

“…Patient registries are helpful to get more insights into this orphan disease 4. The German registry for individuals with AATD (AATDR) is a questionnaire-based collection of data that currently includes 1,074 individuals (12/2015) 5. It was established in 2003 and is continuously recruiting further participants.…”

Intensive smoking diminishes the differences in quality of life and exacerbation frequency between the alpha-1-antitrypsin deficiency genotypes PiZZ and PiSZ

“…The German registry for individuals with AATD (AATDR) is a questionnaire-based collection of data (1079 individuals (01/ 2016)). It was established in 2003 and is continuously enrolling individuals with AATD [8]. The AATDR consists of two parts, one part for adult individuals and another part for AATD individuals under 18 years.…”

Expertentreffen COPD: Personalisierte Therapie der COPD – Wunsch oder Wirklichkeit?

“…Bis Anfang 2015 wurden darin 1350 Patienten erfasst, davon 215 Kinder und 20 % Patienten mit Lebererkrankung. Eine aktuelle Auswertung befasste sich mit Unterschieden zwischen den Geschlechtern [48]. Obwohl Frauen weniger geraucht hatten als Männer, waren sie genauso häufig in höheren GOLD-Stadien zu finden.…”